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American Journal of Human Genetics|January 20, 2015
CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduriaCarol Saunders, Laurie Smith, Flemming Wibrand, et al.Human Molecular Genetics|April 26, 2015
An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidaseReetta Hinttala, Florin Sasarman, Tamiko Nishimura, et al.Journal of Medical Genetics|November 5, 2017
Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patientsKalliopi Sofou, Irenaeus F M de Coo, Elsebet Ostergaard, et al.American Journal of Human Genetics|July 6, 2010
Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defectHana Antonicka, Elsebet Ostergaard, Florin Sasarman, et al.Kidney Diseases (Basel, Switzerland)|May 9, 2022
Renal Phenotype in Mitochondrial Diseases: A Multicenter StudyMaria Parasyri, Per Brandström, Johanna Uusimaa, et al.Journal of Inherited Metabolic Disease|May 12, 2020
Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 casesOmar Hikmat, Karin Naess, Martin Engvall, et al.American Journal of Medical Genetics. Part A|March 21, 2014
Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspectsMaría Valencia, Jose A Caparrós-Martin, María Salomé Sirerol-Piquer, et al.Orphanet Journal of Rare Diseases|April 16, 2014
A multicenter study on Leigh syndrome: disease course and predictors of survivalKalliopi Sofou, Irenaeus F M De Coo, Pirjo Isohanni, et al.Annals of Clinical and Translational Neurology|September 19, 2020
The impact of gender, puberty, and pregnancy in patients with POLG diseaseOmar Hikmat, Karin Naess, Martin Engvall, et al.American Journal of Human Genetics|March 15, 2011
Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine proteaseAndreas Gal, Isabella Rau, Leila El Matri, et al.Pageof 4